Absent navicular with background Kabuki syndrome

Case contributed by Vien Nguyen


History of Kabuki syndrome and precocious puberty presents with foot/ankle pain and inability to walk for the past 4-5 months. No preceding trauma to the foot or increased warmth, redness, or swelling.

Patient Data

Age: 3 years
Gender: Female

The ossification center for the navicular bone in the left foot has not appeared and is concerning for delayed bone maturation. There is mild to moderate diffuse osteopenia. No abnormal soft tissue calcification. The joint spaces are preserved. Mild in-curving/varus deformity of the 3rd, 4th, and 5th toes. The talocalcaneal angle on the lateral view measures 44 degrees and is within normal limits for her age.

Case Discussion

Kabuki syndrome is a multiple congenital anomalies syndrome often characterized by five cardinal features:

  • peculiar facial appearance
  • mild to moderate intellectual disability 
  • postnatal growth retardation
  • skeletal anomalies with joint laxity
  • unusual dermatoglyphic patterns

Precious puberty is not a cardinal feature but has been associated with Kabuki syndrome in the literature. This patient has previously been evaluated by genetics and diagnosed with Kabuki syndrome. She has features of precocious puberty (facial acne, adult body odor, scant genital hair) with elevated DHEA and 17-hydroxyprogesterone. The patient also has delayed bone maturation on an X-ray. Notably, the navicular bone is absent in this patient (ossification center for navicular bone appears between 12-24 months in girls and 30-36 months in boys). Currently, there are no standard references to ascertain bone age based on tarsal bones.

This case was submitted with supervision and input from:
Soni C Chawla, MD
Associate Professor
Department of Radiological Sciences
David Geffen School of Medicine at UCLA
Olive View - UCLA Medical Center

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Case information

rID: 56133
Published: 24th Oct 2017
Last edited: 16th Nov 2020
Inclusion in quiz mode: Included
Institution: Olive View - UCLA Medical Center

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